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Zinayida Schlachetzki

University of California, San Diego

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A case series of challenging molecular diagnoses identified by clinical whole genome sequencing

2021 Molecular Genetics and Metabolism
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Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia.

2021 European Journal of Human Genetics
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Prenatal Testing Combined with Familial Genetic Diagnosis Reduces Disease Recurrence

2018 Social Science Research Network
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